Cancer and Family History: Using Genomics for Prevention

>>Good afternoon,
or good morning, or good evening depending
on when and from where you’re joining us. I’m Dr. John Iskander. It’s my pleasure to welcome you to CDC Public Health Grand
Rounds for April 2016: Using Genomics for
Cancer Prevention. Public Health Grand Rounds has
continuing education credits available for physicians,
nurses, pharmacists, veterinarians, health
educators, and others. Please see the Public
Health Grand Rounds website for more details. Grand Rounds is available
on all your favorite web and social media sites. We’re also live tweeting
today; use #CDCGrandRounds. We have a featured
video segment on YouTube and our website called
Beyond the Data, which is posted shortly after
the session. This month’s segment
features my interview with Dr. Lisa Richardson. We’ve also partnered with
the CDC Public Health Library to feature scientific articles
relevant to this session. The full listing is
available at The Cancer Family History Guide,
which was available in hard copy for those attending in
person, is a pocket tool for healthcare providers that
helps guide providers’ decisions on when further evaluation and genetic counseling
is appropriate. Please visit the Michigan
Genetics Resource Center to learn more about the tool and to order your
own free of charge. Here’s a preview of upcoming
Grand Rounds sessions. Please join us live or on
the web at your convenience. In addition to today’s
outstanding speaker, I’d like to acknowledge the
important contributions of all of the individuals listed here. Thank you. And now we’ll have
an introduction from CDC’s Associate Director
for Science, Dr. Harold Jaffe.>>This will be a
short introduction. Thanks, John. And thanks to the speakers
participating in today’s session on the important topic
of using genomics for the prevention of cancer. I’m thinking that most cancers
are really a combination of risk factors related
to genetics, the environment, and behavior. But some of them are associated with specific inherited
disorders that greatly increase
cancer risk. For example, we know that over
1 million Americans have either hereditary breast and
ovarian cancer syndrome, HBOC, caused by mutations in the BRCA1
and 2 genes or Lynch syndrome, which is associated with
early colorectal cancer and increased risk of
several others cancers. These symptoms increase
the cancer risk for affected individuals
between five and forty times that of the rest
of the population. Nonetheless, persons with
these syndromes can benefit from evidence-based
interventions for early detection and
prevention measures. For example, for people
with Lynch syndrome, earlier and more frequent testing could
reduce colorectal cancer risk by an estimated 60%,
and interventions to identify women infected with BRCA mutations could reduce
their breast cancer risk by 85%. In addition, the
diagnosis of one of these syndromes can benefit
not only the affected individual but also provide an opportunity to identify other at-risk
family members who could benefit from risk reduction
interventions. Public health, working
with our clinical partners, has the opportunity to make
a big difference for persons with hereditary cancers
and for their families. And with that goal in mind, this Grand Rounds will
highlight CDC’s recent work in public health genomics and
the innovative approaches taken by state health departments to
promote education, surveillance, and policy efforts to address
these cancer syndromes. So please give our
speakers a warm welcome. [ Applause ]>>Thank you, Dr. Jaffe. I’d now like to introduce
our first speaker, Dr. Lisa Richardson.>>Good afternoon, everyone. I’m Lisa Richardson, and I’m
an oncologist and the director of the Division of Cancer
Prevention and Control. Cancers of the female
breast, ovary, and colon and rectal cancer are among
the top ten most common cancers diagnosed in the United States. Colorectal cancer is the
third-most commonly diagnosed cancer among men and women. Breast cancer is the
second-leading cause of cancer death among women. All the less common, ovarian
cancer’s highly deadly. And most cancers
are caught late, when they are more
difficult to treat. Colorectal cancer is
the third leading cause of cancer-related deaths
among men and women. The risk factors vary for
different types of cancers as noted on this slide. In particular, inherited
genetic mutations that increase cancer risk play
a major role in about 5% to 10% of all cancers, and the most
common hereditary conditions include hereditary breast
and ovarian cancer syndrome or HBOC and Lynch syndrome. HBOC syndrome involves mutations in two breast cancer
susceptibility genes — BRCA1 and BRCA2. These tumor suppressor genes are
associated with increased risk of the cancers listed on this
slide with the highest risk for breast and ovarian cancer. About one in every 500 women in the US has a BRCA
genetic mutation. Lynch syndrome mainly
involves mutation of DNA mismatch repair
genes leading to tumors with microsatellite instability. Mutations in these mismatch
repair genes are associated with increased risk for
cancers of the gastrointestinal and female reproductive tracts, with the highest
risks associated with colorectal cancer. Here we see the number and
proportion of cancers associated with HBOC and Lynch syndrome. While infrequent, the populations affected
by them are sizable. Individuals with these
hereditary cancer syndromes are also more likely to be
diagnosed at younger ages, at later stages, experience
more treatment-related late and long-term side effects,
and have greater risk of developing second cancers,
whether at the same time, at the same site
or a different one. Each year HBOC syndrome
accounts for up to 10% of all breast cancers or
approximately 22,000 cancers and 15% of all ovarian
cancers or approximately 3,000. Genetic mutations in DNA
mismatch repair genes associated with Lynch syndrome
account for up to 3% of all colorectal cancer or
up to 4,000 cases each year. Carriers of hereditary cancer
syndromes face a significant cancer-related burden. In these two pictures the
left one depicts 100 women in the general population and the right one depicts
100 women with HBOC syndrome. Among women in the
general population, the risk for breast cancer
is about 12% by age 70. Among women with HBOC
syndrome, about 65% are expected to develop breast
cancer by the same age. The risk for ovarian cancer in the general population
is about 1.3% by age 70. Among women with HBOC
syndrome, about 39% are expected to develop ovarian
cancer by the same age. In the carriers of
genetic mutations leading to Lynch syndrome, about 40% are
affected by colorectal cancer by age 70 compared to 4%
of the general population. Certain family histories are
associated with increased risk for HBOC syndrome,
including breast and ovarian cancers
diagnosed at earlier ages. For HBOC syndrome, family histories are also
including a breast cancer diagnosis in a first-degree
relative, including breast cancer in men. Approximately one in 40 Ashkenazi Jewish women has
a BRCA gene mutation compared to one in 500 in the
general population. Certain family histories are
associated with increased risk for Lynch syndrome, including
colorectal cancer diagnosed at earlier ages. Family histories include one or more first-degree
relatives diagnosed with another Lynch
syndrome-related cancer such as endometria, ovarian, and stomach cancer before the
age of 50 or two or more first- or second-degree
relatives diagnosed with another Lynch
syndrome-related cancer. Currently there are two
genomic testing recommendations for individuals with these
hereditary cancer syndromes. The first is from the US
Preventative Services Task Force and has a two-fold
recommendation. First, primary care
providers screen women who have family members
with breast, ovarian, tubal, or peritoneal cancer to
identify a family history that may be associated
with BRCA1 or 2. If women have a family history
consistent with HBOC syndrome, they should be referred
for genetic counseling and, if indicated after
counseling, then BRCA testing. The second is the evaluation of
Genomic Applications in Practice and Prevention Working Group,
which recommended that people with newly-diagnosed
colorectal cancer have access to genetic testing
of their cancers to identify Lynch
syndrome to prevent cancer in their close relatives. Interventions that
reduce risk for cancer or cancer-related deaths for
individuals who are carriers of hereditary BRCA mutations and
Lynch syndrome are available. For HBOC syndrome, these include
discussions with the provider and patient about taking
risk reduction medicine such as tamoxifen or raloxifene
if a woman is at low risk for adverse medication effects. While discussions
about mammography in the general population
don’t begin until age 40, women with HBOC syndrome may
wish to talk to their provider about having mammography
at an earlier age or in combination
with breast MRI. Currently there is no universal
screening test available for ovarian cancer. There are two prophylactic
surgeries that could be used to mitigate risk: A bilateral
mastectomy or removal of both breasts can reduce
the risk of breast cancer by at least 95%; a bilateral
salpingo-oophorectomy or removal of the ovaries and fallopian
tubes can reduce the risk of breast cancer ranging
from 40% to 70% and the risk of ovarian cancer
ranging from 70% to 96%. When patients consider
having these procedures, issues that may require
discussion include possible physical and emotional
side effects and preserving fertility
by freezing embryos. Individuals with Lynch
syndrome should have discussions with their providers about starting screening
colonoscopy starting at age 25 or younger based
on family history. Public health practitioners
are working to translate and implement recommendations
for genetic counseling and testing for hereditary
cancer syndromes into practice. These programs work
to address challenges and barriers to implementation. Surveillance, epidemiology, and public health research
help us track the burden of cancers associated with
hereditary cancer syndromes. Communication and partnership
efforts increase awareness and reach, and public
health tools and interventions are developed
to reach individual providers. We will describe
some of CDC’s work in these areas in more detail. In 2014, CDC launched the no
BRCA decision support tool, which helps women and their
providers understand their risk for having a BRCA1
or BRCA2 mutation. The tool provides information
to women to guide discussions with providers about
family risk. This resource includes
a smartphone app and a web-based tool for
patients and medical providers to learn more about
BRCA gene mutations and assess individual risk
for breast and ovarian cancer. Target audiences include young
women ages 18 to 44 at high risk for having a BRCA1 or 2 gene
mutation and their providers. CDC launched the award-winning
Bring Your Brave digital media campaign in 2015. Bring Your Brave provides
information about breast cancer to women younger than 45
by sharing information about hereditary breast
and ovarian cancers. This resource increases
awareness about breast and ovarian cancer in
women younger than 45. Women tell their
personal stories about how their lives have
been affected by breast cancer. Development of the social
media campaign was based on extensive research with
target audiences and marketed through Facebook, Twitter,
Pinterest, and YouTube. The CDC-funded Public Health
Cancer Genomics Program provides leadership and builds capacity
for cancer genomics activities and state public
health departments. CDC funds a five-year
cooperative agreement to implement education,
surveillance, policy and systems change
activities to translate and implement national
recommendations for cancer genomics. Funded programs are working
to achieve these goals by developing and fostering
partnerships and collaborations with local, state, and
national organizations and health systems. You will hear more information
about one of these programs from our next speaker. The ultimate objective of
the genomics program is to decrease the morbidity
and mortality due to hereditary cancer syndromes. The program seeks to educate the
public and providers, develop or expand surveillance
systems, and assess systems or policy barriers
or facilitators for genetic counseling
and testing or risk reduction services. We’re going to hear more about how one program is
accomplishing these goals from our next speaker,
Ms. Deb Duquette from the Michigan Department
of Health and Human Services. [ Applause ]>>Thank you. It is an honor to
be presenting today. I’m the genomics coordinator
for the Michigan Department of Health and Human Services and also a board-certified
genetic counselor. Michigan is proud to be
celebrating over 15 years of our state public
health genomics program with a primary focus
on hereditary cancers. Our state health department
became one of the first in the nation to realize the
importance of cancer genetics to improve health outcomes and
enhance the quality of life. This was independently
recognized by our Cancer Prevention
and Control section and their Michigan
Cancer Consortium partners who identified the
importance of cancer genetics, especially for risk
assessment and referral for BRCA counseling and testing. Additionally, as part of a
HRSA-funded needs assessment, the genetics program,
which had been focused on newborn screening,
learned from our stakeholders that cancer genetics was
important to improve the health of the people of Michigan and
should be included in our work, leading to our state
genetics plan being the first in the nation to include cancer
genomics goals and objectives. Our cancer genomics program has
critical internal partnerships with our Cancer Prevention
and Control section, Michigan Cancer Surveillance
Program and vital records, Medical Services Administration,
and numerous external partners that have enabled us
to achieve the goals and objectives identified
in our state genetics plan, including increasing
cancer genetic literacy by expanding public
and provider knowledge; assessing the public health
impact of hereditary cancer; genetic services;
enhancing communications with cancer genetic
service providers and promoting partnerships;
and most importantly, reducing morbidity and mortality
related to hereditary cancer by increasing utilization of appropriate cancer
risk assessment services, which is the ultimate
long-term goal of our cancer genomics program. We’re also proud of the Michigan
Comprehensive Cancer Control plan that was the first
in the United States to have an entire goal
for cancer genomics. The Michigan Cancer Consortium
has over 100 organizations that have worked on this state
comprehensive cancer control plan to increase
the availability of cancer-related genetic
information to the public and decrease barriers to
risk-appropriate screening and treatment services. Additionally, these
organizations have worked on the ovarian cancer
goal to improve access to genetic counseling services
for women who are at high risk. A new comprehensive cancer
control plan has just been released that includes
several specific and measurable cancer genetic
objectives and strategies for the next five years. Our cancer genomics activities
have been significantly enhanced because of several
cooperative agreements with CDC. The first five-year
award in 2003 sought to integrate genomics into
chronic disease programs. The next award was in
2008 with the purpose of moving evidence-based
genomic applications into health practice to
maximize health benefits and minimize harm. It was this cooperative
agreement that led to our successful approach of using the core public health
functions of assessment, policy, and assurance to promote
cancer genomics best practices. We were especially
successful in developing and implementing surveillance
for Lynch syndromes and BRCA1 and 2 mutations using new
and existing data sources, such as our state
cancer registry and the Michigan Behavioral
Risk Factor Surveillance System. We also develop provider
education tools to increase use of appropriate screening,
counseling, and testing; and identified model
health plan policies for appropriate BRCA
counseling and testing. In 2011 Michigan was
awarded by CDC to enhance and expand our policy,
surveillance, and provider education
activities related to BRCA counseling,
testing, and management. This cooperative agreement
required funded programs to conduct policy activities
for breast cancer genomics. We therefore structured our
provider education and clinical and public health
surveillance activities to utilize health plan
policies as the catalyst to maximize health benefits of appropriate BRCA-related
services and minimize potential harms. We envisioned BRCA
clinical practices as four critical steps,
starting with accurate recording of family and personal
history of cancer; followed by appropriate
cancer genetic risk evaluation and referral for BRCA counseling
for at-risk individuals; next followed by BRCA
testing for consented patients with accurate interpretation
and discussion of results; and finally, for
individuals found to have a deleterious
mutation, appropriate delivery of BRCA-related clinical
services. Since the inception of our
cancer genomics program, the Michigan Cancer Surveillance
Program has been instrumental for several activities,
including monitoring the number of cancer diagnoses appropriate
for Lynch syndrome screening and hereditary and breast and
ovarian cancer assessment; cases examined using our
state cancer registry and vital records data include
multiple primary cancers, breast cancers diagnosed
at a young age, triple negative breast cancers,
and males with breast cancer. Over 15,000 cancers
diagnosed in a two-year period in Michigan met this case
criteria to be appropriate for hereditary cancer screening. This information has been used to disseminate individualized
reports back to the reporting facility and
provider with information on how and where to refer cases for clinical cancer
genetic services. With the Michigan Cancer
Surveillance Program we have also conducted quality
assurance chart audits to assess cancer family
history documentation, Lynch syndrome screening, and
BRCA counseling and testing. These chart reviews
have identified areas for improvement, including
family history documentation, especially for age of onset and
the need for increased referrals for BRCA and Lynch syndrome
counseling and screening. Based on these findings, family history documentation
has been added as a mandatory reporting element
for facilities in Michigan. With CDC, the Michigan
Cancer Surveillance Program, and the University of Michigan,
we also conducted a study of 3,000 young breast
cancer survivors and their at-risk female
relatives to determine barriers and facilitators to
breast cancer screening and cancer genetic services. We also provided
written interventions to increase these services. This study demonstrated
significant health disparities with the baseline
survey finding only 18.3% of black young breast cancer
survivors receiving genetic counseling and testing,
compared to 32.9% of other young breast
cancer survivors. The most common self-reported
reason for not seeking cancer
genetic services was that no one had ever
suggested these services. This was reported for 75% of black young breast
cancer survivors and 63% of other young breast
cancer survivors. In order to increase provider
awareness and education about appropriate referrals for
BRCA counseling and testing, Michigan partnered with
CDC, other state grantees, and local partners to
develop an online CME course. Participants learned BRCA best
practices through an engaging and interactive online
approach that includes a variety of clinical cases with
different decision options, risks, and outcomes. Participants can receive
2.0 CME’s at no cost. This online course has had
over 4,400 sessions viewed with the majority of
participants reporting that the course will
change their practice for BRCA counseling and testing. We have also developed
provider tools to assist with risk assessment
and referral for cancer genetic services and
cancer screening management. One of our most popular tools is
the Cancer Family History Guide, which has been sent to over
20,000 providers at no cost. Michigan has had significant
annual increases in the number of individuals who
receive BRCA counseling, were tested after counseling, and received BRCA-positive
results at cancer genetic clinics with board-certified
genetic counselors. This increase is related
to several factors, including provider education
efforts and a significant growth in the number of
cancer genetic clinics with board-certified
genetic counselors — many in previously
undeserved areas — and the availability of telephonic genetic
counseling services. However, there continues to be a
need for cancer genetic services for specific populations. For instance, less than
300 black adults per year in Michigan are receiving cancer
genetic counseling services with little increase seen
between 2008 and 2013. For our new cooperative
agreement, populations in need of greater cancer genetic
services are our primary focus, including black adults
with a significant personal or family history of breast
and/or ovarian cancer. Another activity that has
helped to increase access to BRCA counseling and testing
is our work to recognize and promote best practices
for health insurance plans. We develop metrics for
BRCA best practices based on evidence-based
recommendations and reviewed each health
plan’s written policies. Once a health plan received
thumbs up for all metrics, they were recognized
by our department. Annually our program has
provided each health plan with an individualized report
indicating areas of improvement if needed, data about the number of their members receiving
BRCA counseling and testing by clinics with board-certified
genetic professionals, examples of best practice
written health plan policies, and a directory of Michigan
cancer genetic services. When this work began in
2009, there were only four of 25 Michigan health
plans that were recognized for their written policies. And now to date we
have recognized 16 of our health plans
that provide coverage to over 8 million
people in Michigan. For many of the health plans,
annual growth in the number of their members receiving
BRCA counseling has been found. Additionally, we have shown
reduced insurance barriers to appropriate BRCA testing in
our clinical surveillance data. CDC has used this as a model to investigate BRCA
written health plan policies in other states. With CDC’s support, we also
founded the Lynch Syndrome Screening Network
whose mission is to promote Lynch
syndrome screening and all newly-diagnosed
patients with colorectal cancer. If your institution is
interested in partnering to promote Lynch
syndrome screening for newly-diagnosed
colorectal cancers, please consider joining
the network. This is a national organization with over 120 leading
cancer institutional members that have reported over 20,000
newly-diagnosed colorectal cancers screened
for Lynch syndrome with significant annual
increases since 2009. In summary, there
is an overall need to increase evidence-based
cancer genomic best practices for all populations and to address identified
health disparities. State health departments
are well poised to promote such practices and have the
infrastructure to do so. Partnerships and dedicated
staff can help tremendously to advance cancer
genomic activities that utilize the core public
health functions of assessment, policy, and assurance. Please contact me if you are
interested in learning more or obtaining any
of our educational, surveillance, or
policy resources. Thank you so much. And the next speaker
is Lindsay Avner, who is the CEO of Bright Pink. [ Applause ]>>Thank you so much
for allowing me to join you here today. My name is Lindsay Avner. And my story started
back before I was born. I have a very, very, very,
very strong family history of both breast and
ovarian cancer. My grandmother and great-grandmother
passed away six days apart, both from breast cancer
at the ages of 39 and 58. When I was 12, my mom was
diagnosed with breast cancer and ten months later
with ovarian cancer. And I’m so thrilled to share
that she’s a 24-year breast, 23-year ovarian cancer
survivor today. And as you can imagine, I always
felt as though this disease or these diseases would be
coming for me at one point but it would be years
and years from now. Although I was surprised after
graduating from the University of Michigan when I found
out that I tested positive for the BRCA1 gene
mutation in 2005. I was shocked, I was scared. I reached out to a whole
bunch of cancer organizations and found I didn’t really
fit within that group and yet I wasn’t like
everybody else. Oops, so sorry. I would go to these
screening appointments and I would hold my breath, hoping that everything would be
okay, walk out, breathe a sigh of relief, but know
I had to turn around and do the screening once again. And through my entire
experience, I realized that I was
playing a big game of defense and not offense. And so in 2006 I opted to have a
risk-reducing double mastectomy. At the time I was the youngest
patient in the country ever to make this decision. And it was through
this experience that I realized the lack
of resources out there for young women like myself — women who are healthy
but have the power to be proactive with
their health. I was asking myself
this question, which is: Why do we have to wait until someone is
diagnosed to take action? And so in 2007 Bright
Pink was born. Bright Pink is a national
nonprofit organization focused on the prevention and early
detection of both breast and ovarian cancer
in young women. We see a world in which
fewer people are dying from breast and ovarian cancer. We aim to reach them
at a young age and inspire them to take action. Everything we do is focused on
empowering them with information and access to resources and
tools, getting them to do things to be proactive with their
health — to go to their doctor, to examine their
family health history, to have this conversation
with women in their life that they love. And we do this by reaching
the 52 million women in the US between the ages of 18 and 45, as well as the healthcare
providers who care for them. We’re reaching them with
evidence-based breast and ovarian health content
in a whole variety of ways. I’ll tell you about
some in just a moment. But we’re reaching them in
particular where they work, where they’re connecting
digitally, where they’re engaging
with their community. And the whole focus is inspiring
them to put awareness in action. We sit on the decades of
massive awareness movements and yet we find that that same
woman who might show up and run a 5K has no idea
that her father’s side of the family history matters
just as much as her mother’s. And we’re aiming to that change
through are education programs that are focused on scale,
reaching millions of women, and sustained behavior change. It’s a two-pronged
approach to our work. One side of the organization
focuses on empowering the women; the other side focuses
on ensuring that we have proactive
providers. And together this is a
life-saving equation. And we have broad reach. We currently operate
within 39 different states. We have coverage of Bright
Pink-trained ambassadors who go into their communities,
into workplaces, into places of worship,
and they’re educating women and offering unmatched support. We couldn’t do it alone without
these thousands of people who are joining us and
bringing this mission to life. And so to touch just upon how
we’re doing this specifically as it relates to young women,
we have an incredible workshop that is about 20 minutes. It’s called Brighten Up. And what we do is we go into
places where young women are. We teach them about the role
that family health history plays in determining their own risk, we walk through early detection
practices, signs and symptoms, risk reduction, risk assessment. And ultimately, the end call to action is our digital
risk assessment tool. But you can see with the
educational workshop last year alone we had the opportunity to
reach more than 35,000 women. This year we’re on track to
double that, to reach more than 70,000 women with
this high-touch program. The digital complement to this
program is a 19-question quiz that we call Assess Your Risk. It combines family health
history with lifestyle factors and gives a user a preliminary
sense of do they fall within an average
risk, increased risk, or high-risk category; what’s
working in their favor, what’s not, and what
they can do as a result. And you can see we were so
proud last year to have more than 120,000 women complete
this risk assessment. And this year we’re on track to
close to triple those results. For those women who find out
that they are at high risk who carry a mutation,
we have a whole variety of support offerings. PinkPal is operated by a
psychologist on our staff who pairs up a young woman
perhaps considering genetic testing with another
woman who’s already — of similar demographics
who’s already gone through a similar situation. We have outreach groups
in 23 communities. These are gatherings
of high-risk women to share similar
concerns and experiences. And we also have a whole digital
presence of people who prefer to sit from the comfort of their
home and connect with others. And we’re a really
proud later this year to be launching a new
microsite that’s focused on being a one-stop-shop
for all information related to genetic testing to really
demystify this process and inspire women who should be
getting testing to cross over, obviously responsibly through
visiting a genetic counselor and ensuring that
they are prepared to handle those results. We know that this is working. This is a report from one of our
ambassadors, so one of the women who goes out into the community
in Dallas and educates. She said. “After this talk I
was approached by a young woman who shared her striking
family history of breast and ovarian cancer;
she was relieved that there was genetic
testing for her family.” We also heard just a
couple weeks ago from Katie, who wrote to us on
Facebook, and she said, “Thank you for providing
accurate and evidence-based
information on cancer risk. I knew that I carry
the BRCA2 mutation, but the information you
provided helped me decide to undergo a prophylactic
double mastectomy six weeks ago. I am now a success story.” And that’s what it’s all about. On the other side
of the organization, as I mentioned before, we
focus on reaching providers — OB/GYN’s, internists, family medicine practitioners,
nurses as well. And the whole program was
developed based on this insight and this constant conversation
we’re hearing from members of our community who are
saying “You educated me, I went to my provider and I actually knew a little
bit more than they did.” And what we realized is
there was this tremendous gap that existed in ensuring
that providers knew that risk is not binary, it’s
not you’re either at risk or you’re not; it’s
a spectrum and how to properly classify women
based on risk and manage that risk as a result. So we’ve trained close to 50
medical providers nationwide who we send to Grand
Rounds settings and residency didactics. It’s a 50-minute
lecture accompanied with a case-based
learning module. Since 2015 we were so proud to
educate women 4,000 providers at more than 80 institutions. And we all know these
are very busy people who are seeing a
lot of patients. So the exponential impact
of this work is the power to reach more than 14 million
women in the years to come. What I think is so
incredible about this, though, is that the providers
are walking out, whether we’re reaching them
at prestigious institutions or community health settings,
and they’re telling us that this program is
making a difference. And you can see this year
we’re on track to reach more than 6,000 providers at
more than 100 institutions, more than 21 million
women seeing the benefit. And we’re also working on a
digital component to this. So the program evaluations
have been quite revealing. 89% of providers are citing
an increased knowledge on how to correctly classify
the risk level for their young female patients
as a result of this program. You can see from the
chairman of family medicine of the Cleveland Clinic saying,
“Thanks for an interesting, practical Grand Rounds
this morning. Already starting to
change the way I think about screening some
of my patients.” More data, 84% of our
providers are indicating that they had an increased
knowledge of breast and ovarian cancer
risk reduction and early detection options
for young women as a result. And I love this quote from Dr.
Redman who said, “You know, this lecture really gives
the right perspective. It breaks it down. It’s more than studying for
the boards; it’s the heart of practice saying we
know that 99% of people who are attending these
workshops also say that they would either agree or strongly agree
to this statement. I feel a sense of urgency
to initiate conversations about breast and
ovarian cancer risk with my young female patients
as a result of this program.” And that is that
sustained behavior change. We’re also following up with
three- and six-month data to ensure that it’s
really sticking. So it’s interesting because
I started this talk sharing with you a little bit about
my history, my background, the past and that inspired me. And yet what really moves
me today is the possibility for the future. The reason I do this work is because I have three
teenage children that are absolutely counting on
me and they’re counting on all of us to create the
world that we want. I met my husband, Greg, six months after his late
wife Felicia had passed away from breast cancer. Everyone said she
was an amazing woman. She was actually diagnosed
with breast cancer at 35 and only afterwards did she find
out that she was BRCA-positive. I have two step-daughters and
a stepson that may be carriers. And I have a vision
for the world I want for them to grow up in. And it’s a world where
their provider is educated, it’s a world where
they feel supported to make healthy decisions,
and it’s a world where they are playing
offense and not defense. And I know that this world can
be possible because of the work of Bright Pink, because of
the work and dedication all of the work that each and
every one of you do as well. So with that, I would
encourage all of you to visit to
get involved in our programs, offering
as an option. And I thank you so much. With that, I’d love to
introduce you to Dr. Khoury. [ Applause ]>>Good afternoon. You’ve heard what CDC and state
public health programs are doing in using genomics in cancer
control and prevention. Cancer has been the
leading application for public health genomics. But genomics truly applies
to all human diseases and affects all areas
of public health. Almost two decades ago, CDC realized the profound
opportunities and challenges for genomics in public health
and created the CDC Office of Public Health Genomics. The office has been
working with CDC programs, state public health, and
other partners to effectively and responsibly translate
genome discoveries into disease prevention
and population health. We have three main strategies: Identify evidence-based
genomic applications; inform and communicate with
providers, policy makers, and the public; and
integrate these applications into clinical practice and
public health programs. A crucial function of
public health genomics is to identify health impact in
a rapidly emerging landscape of science and technology,
specifically identifying which genomic applications
and family history that are supported by
synthesized evidence for their use; estimate the
potential population health’s impact, which can be measured
in terms of lives saved, disease prevented, and
healthcare cost savings; and finally, promoting
appropriate and equitable use. This public health assessment
function is needed more than ever as we continue to see
amazing growth in the number of available genetic tests
in the past two decades. As of March 30th this year, there are over 78,000
genetic tests for more than 4,000 diseases available through clinical
research and practice. Almost 700 labs and more than 1,000 clinics are
offering genetic testing for many diseases
and conditions. What should be the appropriate
public health response? To identify genomic tests and
applications that are ready to impact health now, CDC
has developed a simple classification schema
for genomic tests based on rapidly changing
levels of evidence. Tier one or green are
ready applications that can be implemented
today in practice. And you’ve heard two
prominent examples today. Here are the three: Breast and ovarian cancer
and Lynch syndrome. But there are also other things
like newborn screening, which has been a prominent
public health genetics program for more than 50 years. Tier two or yellow
are applications for which there is
insufficient evidence to support routine
implementation, but they can provide information
for informed decision-making on a case-by-case basis. In category includes,
for example, many of the 200 pharmacogenomic
tests that are on the FDA gene drug label. These tests are used for the
prediction of patients’ response to certain medications. Tier three or red are
applications and tests that are not ready for
routine implementation because they either lack
evidence or there is evidence to recommend against their use. An example of tier
three are direct to consumer personal
genomic tests. Summarized today there are more than 40 tier one tests
classified today; most of them are cancer-related. Their intended uses vary
from diagnosis, prognosis, risk prediction, treatment, risk assessment, and
pharmacogenomics. In fact, genomic
applications today in tier one could benefit
millions of people. Other than newborn screening,
which affects all births, the two conditions
discussed today are estimated to affect more than 1 million
people in the United States. And most of them do not know
they have these conditions. This calls for an important
role for public health in saving lives and
preventing disease. You heard about the one
low-tech genomic application or two that’s ready for use
in public health today — that’s family health history. We know that family health
history is a risk factor for many diseases. Use of family history
offers opportunities for targeted screening and
evidence-based interventions that can save lives
and reduce the burden of many chronic disease in
addition to cancer, diabetes, and heart disease, for example. Public health approaches to use family history
are already in place. For over a decade
CDC has been part of the Surgeon General Family
Health History Initiative, which has developed an online
free family health history tool available in four languages
to encourage all Americans to collect family
history information, especially around holidays
when families gather. Thanksgiving Day
has been declared by the Surgeon General the
National Family Health History Day since 2004. So where are we now with
genomics and public health and what does the future hold? The possibilities for genomics to improve public health
are growing rapidly. More than a decade
after the completion of the Human Genome Project,
genome sequencing is cheaper and more reliable than ever. Whole genome sequencing has
emerged as a powerful tool in both clinical
and public health. Human DNA sequencing
is increasingly used for the diagnosis of rare
disease and tumor sequencing. Pathogen DNA sequencing has
become an essential public health tool. The recently launched CDC
Advanced Molecular Detection Initiative uses genomic
technologies, and bar informatics,
and surveillance, and outbreak control
and detection. We’ve also seen increased
public awareness and use of genetic tests, such as
the increase in BRCA testing that followed Angelina
Jolie’s announcement about her own status and
prophylactic surgeries. Last but not least, we are
seeing a rapid proliferation of direct to consumer genetic
tests by the private sectors. A million or more people have
already sought such services in a changing paradigm of how
genetic testing can be done. Supportives of direct to
consumer testing praise it for allowing consumer
empowerment; others have expressed concern that such testing
does not adhere to evidence-based
applications and best practices, and certainly, the use of genetic counseling
before testing. Increasingly, a public
health approach is needed to address challenges in
genomic implementation across many diseases. You’ve heard about
education of the public and healthcare community
addressing healthcare systems limitations, such as
collecting family health history and approaches to inform
affected patients’ relatives of their risks; promoting
evidence-based policy and practice to support the
appropriate use of genomic tests and reducing healthcare
costs; collecting, analyzing population-level data
on implementation and outcomes and assuring the lab quality
of such testing; and last but not least, addressing
health disparities to ensure benefits for all. The potential for
widening health disparities in the genomics era is real. This is just one
example of a study that illustrates
disparities in BRCA testing by racial ethnic groups. This is a study of early
onset breast cancer cases in young women from
a national sample of about 14 million
commercially insured patients. You can see that black and Hispanic women are
significantly less likely to have BRCA testing
compared to white women. Not only do these women miss
out on the benefits of testing in terms of their
own management, but their family members also
miss out on the chance to find out if they’re at risk. These types of data
should be looked at across all genetic test
and disease conditions, and reasons for disparities
explored and addressed. Genomics is also increasingly
addressed in national policy and legislation, including
the Affordable Care Act, which now covers some
evidence-based genomic services, such as BRCA, in accordance with the US Preventive Services
Task Force recommendation, as well as newborn screening. The Genetic Information
Nondiscrimination Act or GINA prohibits
discrimination and has coverage on employment based on
genetic information. The inclusion of
specific CPT codes for many genetic
tests now allows us to track implementation
and outcomes of genetic testing
in the United States. And last but not least, HHS Healthy People 2020
objectives have added two new genomic objectives:
Hereditary breast and ovarian cancer
and Lynch syndrome. To summarize, you’ve seen this
slide before in the context of cancer genomics but
truly applies to all areas of genomic activities
in public health across numerous disease
programs. This includes surveillance,
epidemiology and research, communication and partnerships,
and public health practice. Finally, I’d like to end with a unique emerging
opportunity for public health. In 2015, President Obama
launched the US Precision Medicine Initiative. This initiative promises a
new era of targeted treatment and prevention across
many human diseases. The initiative has
two components: Development of new cancer
molecularly-targeted therapies and a national cohort of
a million or more people which seeks to prospectively
study genetic and nongenetic factors in health
disease and other outcomes on a very large scale and
also to use this information in developing new therapies
and preventive interventions. How is this initiative
relevant to public health? The success of the Precision
Medicine Initiative requires a strong public health partnership
to help ensure inclusion and generalizability
and to focus on prevention, not
just treatment. Public health is also needed to
ensure an appropriate balance between long-term
knowledge generation and immediate health
gains within the cohort that are possible by implementing existing
evidence-based genomic applications, such as the ones
discussed today and others from the tier one CDC list. In the future we can
look forward to a new era of precision public health in which health interventions
can be targeted to population subgroups based
on genetics and other factors, to maximize benefits of
prevention strategies, minimize harms, and
reduce healthcare costs of the 21st century. Thank you for your attention. [ Applause ]>>Okay. We have time
for a few questions. I want to thank all
the presenters. Cathy?>>From our
online audiences, would the panel please
address the perception that people may have that
if they don’t have the genes for a particular
cancer, they are safe. That really needs
to be accounted for.>>Muin, do you
want to start with that?>>You’ve seen the slides,
actually the slides have the risk of breast and ovarian cancer and
colorectal cancer among people with or without carriage of
these types of mutations. And if you are negative or
BRCA1 or 2 or Lynch syndrome, you still don’t have a
background risk of breast, ovarian, and colorectal cancer. That depends on other risk
factors, depends on your age, depends on other considerations. There may be other genes that
haven’t been measured yet.>>Dr. Jaffe?>>I know that the
direct consumer marketing of these genetic tests is
rated I guess as tier three, but presumably people
are getting these tests; are they turning up to genetic
counselors holding their test results and saying “Am I
going to get breast cancer?”>>Deb, you want to take that?>>Yes, that’s correct. So you are exactly correct,
that that is happening in the genetics clinics, as well as in the primary care
provider clinics as well, that people are bringing
those test results, very confused about
what they mean. And then also the providers
need to try to figure out what’s going on with that. Interestingly enough
in Michigan, we’re one of the very few
states in the United States that we have a law that’s
been in place since 2000 that requires written
informed consent to be obtained by a provider before
any presymptomatic or predictive genetic test. But it would only apply to
things that happen in Michigan. So it’s certainly when
we’ve looked at data from our behavioral risk
factor surveys and compared it to other states, Michigan, we do seem to have way
less awareness of that. And it may be somewhat related to that law compared
to other states. So we’re perhaps not seeing it
as much in Michigan compared to other states, but we
are definitely seeing it.>>Just to add to what Deb
just said, a recent study of 1,000 customers who had these
services, and within six months about a third of them
took to their providers. And many of them emerged back from the provider interaction
dissatisfied or unhappy of that interaction because
the providers didn’t know what to do with the information. So it’s a confusing
market out there. There are other reasons
why people do DTC testing, like ancestry and,
you know, recreation. I mean, they have fun, they
like to do other things. But for health-related purposes,
we call them tier three.>>So Lindsay, did you
want to say anything as someone who’s been tested?>>Yeah, I think this
is a hard gamble. As somebody who, you know, is
talking to women day in and day out about this information,
and trying to get them over this really critical
hurdle, there’s so many people that should be getting
tested that aren’t. So in some ways creating greater
access is really exciting in a lot of ways, but it
also can be scary, right? We need to make sure that
we’re doing this responsibly, that when people
get the results, that there is a huge
uptake in terms of doing something
with those results. We very much believe — we
talk about this all the time at Bright Pink — that it’s
not just about knowledge, it’s not just about awareness; it’s about what do you
do as a result of that? And so I think having a
really thoughtful partner in your provider,
which is why, you know, the program Bright Pink is
going out and delivering in communities nationwide is
so critical because we need to make sure that these
providers are totally equipped to have this conversation
to support the action that drives that as a result.>>We’ll take a question
from the online audience.>>So from our Grand
Rounds email box, Dr. Richardson advocates genetic
counseling for individuals who may have increased
risk for cancer. According to a recent report on
National Public Radio, however, the current number of genetic
counselors is inadequate to meet this need. Could Dr. Richardson or other
speakers comment on one, the adequacy of the number of
genetic counselors compared to the number of people who
seek or need genetic counseling, and two, national efforts
to increase the number of genetic counselors?>>So we all heard that
story on NPR yesterday. And we thought it was quite
timely for today’s presentation. This is a shortage of
genetics counselors who are board certified,
and Deb can speak to that. I think some of the things
they’re doing in Michigan that they’re doing in other
places is telephonic counseling. Telehealth is now
becoming bigger and bigger so you can reach
audiences or people in need who don’t have counselors
where they are. I am not aware —
and Deb may know more about what the training —
how training is being ramped up to have more counselors
trained.>>So yes, you are correct. The American Board of Genetic
Counselors, the National Society of Genetic Counselors have
definitely been trying to think of ways to increase the
number of genetic counselors. One of the issues is that the
genetic counselors are moving from clinical practice
into industry. And so to keep those
genetic counselors in clinical practice new things
are happening like increases in salary, which is
a very good idea, but also programs
are really trying to increase their capacity. For instance, I’m a
Northwestern University graduate of their genetic
counseling program. This year they had 13 graduates,
but next year they’re taking 20.>>The only other
thing I will add is that I think it’s just
really important to make sure that we’re thinking about where
especially young women are in offering the information, how they’re used to
receiving content. And I think part of our efforts to create a digital
one-stop-shop so to say that really demystifies
this process, I think. Because we do know sometimes
when people are referred to genetic counselors, that middle step can actually
be a hindrance in itself. So I think this is a really
tricky evolving situation. We all need to be watching
it but also be focused on the end goal, which is
ensuring that the 90% of people in this country who carry BRCA
mutation have access to find out this information and therefore do
something as a result.>>We have time for one
more question in the room. Rich?>>Thanks and really good and useful presentations
by all four of you. Appreciate that. So I’d like to talk about
one group, Ashkenazi Jews. On a personal note, I was
born and raised Jewish. My sister and mother
had breast cancer — both BRCA-negative which makes
life more difficult in figuring out what their risk factors are, as someone else pointed
out here. Since Ashkenazi Jews are
disproportionately affected or more likely to have BRCA
genes, what is CDC doing, what are states likely to do,
what do we support the states to do, and what avenues
are you looking at? And I’ll just name a
few and then go away. So one is that Jewish women
typically are very tightly bound to their parents
even beyond marriage. And the mother commonly is in
a sisterhood at her temple. So that’s one thing. Another situation is
there are colleges that are relatively
high percentage Jewish women population. I’m told Emory is, like, one-third total men
and women Jewish. So that’s another target. And since we’re talking
about the proper targeting and communication, I wonder if we’ve started to
make that attempt. So thank you, however
you take it.>>Thanks, Rich. So to answer your question,
we have been working with several Jewish groups, one
in particular. So we have identified
that as a population to which we reach
out to specifically. I can’t — don’t have time
to go into all the details, but I’ll be happy to
talk with you later. But yeah, we have recognized
that as a specific need. So I think that’s
all the questions that we can take now
— I’m sorry, one more? Okay.>>Again, from our
Grand Rounds email box. This one’s a little broad. What are your recommended
strategies for public health organizations
to provide education, screening, and referrals for
BRCA1 and 2 testing?>>So Deb, that’s
right up your alley, I’ll let you take it or start.>>I’m a huge advocate
of epidemiology and data and starting there to
really try and figure out where the needs are
in your community and then to target your education
efforts based on that. Otherwise I think it’s going to become way too broad
and not so focused. But one easy target is if
your state does have a large Ashkenazi Jewish population, that would be a very
easy place to start. So that would be my number
one focus for people. But it does seem when
we look at our data — and I would encourage
people to look at this — is really look at the ovarian
cancer cases because I think that is a very, very
important group that definitely needs
these services and that all ovarian cancer
patients would greatly benefit for this. In fact, you’re going to find
something, either Lynch syndrome or BRCA or another
hereditary cancer syndrome in that population is
going to be much greater than these other populations.>>So I’ll end with the fact that you’re watching this
telecast right now is the beginning of learning
about what your options are and becoming educated
about your options. All the things that we’ve talked
about here today are critical. And the main thing is — I think
it was Rich may have said it when he was speaking — you
know, family history even without a gene is really
what this is all about. So understand your
family history. Understand what your options
are for counseling and testing. And then, you know, empower
yourself, as Lindsay said, to move forward and figure out
what to do about your risk.>>Thank you all very much. Can we have another round
for our outstanding speakers? [ Applause ]>>So I actually used the wheel
to log in my own family history. And thankfully, my provider
is actually screening me appropriately. So I’m very happy to have
confirmation of that. This is a great tool. And, again, please join us in
next month for another addition of Public Health Grand Rounds. Thank you. [ Applause ]

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